Pediatrics
Service
University of Genoa
Génova, ItaliaPublications in collaboration with researchers from University of Genoa (5)
2020
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Cardiac phenotype in ATP1A3 -related syndromes: A multicenter cohort study
Neurology, Vol. 95, Núm. 21, pp. E2866-E2879
2019
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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352
2017
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Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
Journal of Inherited Metabolic Disease, Vol. 40, Núm. 1, pp. 21-48
2015
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Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood - A study of 155 patients
Orphanet Journal of Rare Diseases, Vol. 10, Núm. 1
2013
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Long-term follow-up and outcome of phenylketonuria patients on sapropterin: A retrospective study
Pediatrics, Vol. 131, Núm. 6